GCKR Chromosome 2
Glucokinase regulator
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What This Gene Does
This gene encodes a protein belonging to the GCKR subfamily of the SIS (Sugar ISomerase) family of proteins. The gene product is a regulatory protein that inhibits glucokinase in liver and pancreatic islet cells by binding non-covalently to form an inactive complex with the enzyme. This gene is considered a susceptibility gene candidate for a form of maturity-onset diabetes of the young (MODY). [provided by RefSeq, Jul 2008]
Associated Conditions (3)
FASTING PLASMA GLUCOSE LEVEL QUANTITATIVE TRAIT LOCUS 5
Hypertriglyceridemia
GCKR-related disorder
Key Variants
RS144127332
Conflicting classifications of pathogenicity
Health Risk
RS146175795
Conflicting classifications of pathogenicity
FASTING PLASMA GLUCOSE LEVEL QUANTITATIVE TRAIT LOCUS 5, Hypertriglyceridemia, FASTING PLASMA GLUCOSE LEVEL QUANTITATIVE TRAIT LOCUS 5
Health Risk
RS201731254
Conflicting classifications of pathogenicity
Health Risk
RS2148586064
Conflicting classifications of pathogenicity
Health Risk
RS375836361
Conflicting classifications of pathogenicity
FASTING PLASMA GLUCOSE LEVEL QUANTITATIVE TRAIT LOCUS 5, FASTING PLASMA GLUCOSE LEVEL QUANTITATIVE TRAIT LOCUS 5
Health Risk
RS573498430
Conflicting classifications of pathogenicity
Health Risk
RS745955443
Conflicting classifications of pathogenicity
Health Risk
RS768048286
Conflicting classifications of pathogenicity
Health Risk
RS8179206
Conflicting classifications of pathogenicity
FASTING PLASMA GLUCOSE LEVEL QUANTITATIVE TRAIT LOCUS 5, GCKR-related disorder, FASTING PLASMA GLUCOSE LEVEL QUANTITATIVE TRAIT LOCUS 5
Health Risk
All Variants (9)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS144127332 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS146175795 | Health Risk | Conflicting classifications of pathogenicity | FASTING PLASMA GLUCOSE LEVEL QUANTITATIVE TRAIT LOCUS 5, Hypertriglyceridemia, FASTING PLASMA GLUCOSE LEVEL QUANTITATIVE TRAIT LOCUS 5 |
| RS201731254 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS2148586064 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS375836361 | Health Risk | Conflicting classifications of pathogenicity | FASTING PLASMA GLUCOSE LEVEL QUANTITATIVE TRAIT LOCUS 5, FASTING PLASMA GLUCOSE LEVEL QUANTITATIVE TRAIT LOCUS 5 |
| RS573498430 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS745955443 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS768048286 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS8179206 | Health Risk | Conflicting classifications of pathogenicity | FASTING PLASMA GLUCOSE LEVEL QUANTITATIVE TRAIT LOCUS 5, GCKR-related disorder, FASTING PLASMA GLUCOSE LEVEL QUANTITATIVE TRAIT LOCUS 5 |